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Entry | Name | Description | Category | Pathway | Gene |
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H00418 | Bardet-Biedl syndrome | Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism ... | Inherited metabolic disorder |
(BBS1) BBS1 [HSA:582] [KO:K16746] (BBS2) BBS2 [HSA:583] [KO:K16747] (BBS3) ARL6 [HSA:84100] [KO:K07951] (BBS4) BBS4 [HSA:585] [KO:K16531] (BBS5) BBS5 [HSA:129880] [KO:K16748] (BBS6) MKKS [HSA:8195] [KO:K09492] (BBS7) BBS7 [HSA:55212] [KO:K16749] (BBS8) TTC8 [HSA:123016] [KO:K16781] (BBS9) BBS9 [HSA:27241] [KO:K19398] (BBS10) BBS10 [HSA:79738] [KO:K19401] (BBS11) TRIM32 [HSA:22954] [KO:K10607] (BBS12) BBS12 [HSA:166379] [KO:K19402] (BBS13) MKS1 [HSA:54903] [KO:K19332] (BBS14) CEP290 [HSA:80184] [KO:K16533] (BBS15) WDPCP [HSA:51057] [KO:K22863] (BBS16) SDCCAG8 [HSA:10806] [KO:K16488] (BBS17) LZTFL1 [HSA:54585] [KO:K19400] (BBS18) BBIP1 [HSA:92482] [KO:K19399] (BBS19) IFT27 [HSA:11020] [KO:K07934] (BBS20) IFT172 [HSA:26160] [KO:K19676] (BBS21) CFAP418 [HSA:157657] [KO:K25226] (BBS22) IFT74 [HSA:80173] [KO:K19679] |
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H00530 | Joubert syndrome and related disorders | Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... | Congenital malformation |
(JBTS1) INPP5E [HSA:56623] [KO:K20278] (JBTS2) TMEM216 [HSA:51259] [KO:K19385] (JBTS3) AHI1 [HSA:54806] [KO:K16740] (JBTS4) NPHP1 [HSA:4867] [KO:K19657] (JBTS5) CEP290 [HSA:80184] [KO:K16533] (JBTS6) TMEM67 [HSA:91147] [KO:K19348] (JBTS7) RPGRIP1L [HSA:23322] [KO:K16550] (JBTS8) ARL13B [HSA:200894] [KO:K07962] (JBTS9) CC2D2A [HSA:57545] [KO:K19352] (JBTS10) OFD1 [HSA:8481] [KO:K16480] (JBTS11) TTC21B [HSA:79809] [KO:K19673] (JBTS12) KIF7 [HSA:374654] [KO:K18806] (JBTS13) TCTN1 [HSA:79600] [KO:K19382] (JBTS14) TMEM237 [HSA:65062] [KO:K22765] (JBTS15) CEP41 [HSA:95681] [KO:K16455] (JBTS16) TMEM138 [HSA:51524] [KO:K22867] (JBTS17) CPLANE1 [HSA:65250] [KO:K22859] (JBTS18) TCTN3 [HSA:26123] [KO:K19382] (JBTS19) ZNF423 [HSA:23090] [KO:K22870] (JBTS20) TMEM231 [HSA:79583] [KO:K19362] (JBTS21) CSPP1 [HSA:79848] [KO:K16771] (JBTS22) PDE6D [HSA:5147] [KO:K13758] (JBTS23) JBTS23 [HSA:9786] [KO:K22865] (JBTS24) TCTN2 [HSA:79867] [KO:K19361] (JBTS25) CEP104 [HSA:9731] [KO:K16458] (JBTS26) KATNIP [HSA:23247] [KO:K22858] (JBTS27) B9D1 [HSA:27077] [KO:K16744] (JBTS28) MKS1 [HSA:54903] [KO:K19332] (JBTS29) TMEM107 [HSA:84314] [KO:K22764] (JBTS30) ARMC9 [HSA:80210] [KO:K22864] (JBTS31) CEP120 [HSA:153241] [KO:K16459] (JBTS32) SUFU [HSA:51684] [KO:K06229] (JBTS33) PIBF1 [HSA:10464] [KO:K16538] (JBTS34) B9D2 [HSA:80776] [KO:K16745] (JBTS35) ARL3 [HSA:403] [KO:K07944] (JBTS36) FAM149B1 [HSA:317662] [KO:K24653] (JBTS37) TOGARAM1 [HSA:23116] [KO:K24886] (JBTS38) JBTS38 [HSA:9851] [KO:K21765] (JBTS39) TMEM218 [HSA:219854] [KO:K26674] (JBTS40) IFT74 [HSA:80173] [KO:K19679] |
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H01282 | Spermatogenic failure | Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... | Reproductive system disease |
(SPGF1) SYCP2 [HSA:10388] [KO:K19529] (SPGF3) SLC26A8 [HSA:116369] [KO:K14705] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (SPGF5) AURKC [HSA:6795] [KO:K11480] (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF7) CATSPER1 [HSA:117144] [KO:K16889] (SPGF8) NR5A1 [HSA:2516] [KO:K08560] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938] (SPGF11) KLHL10 [HSA:317719] [KO:K10448] (SPGF12) NANOS1 [HSA:340719] [KO:K18741] (SPGF13) TAF4B [HSA:6875] [KO:K03129] (SPGF14) ZMYND15 [HSA:84225] [KO:K24081] (SPGF15) SYCE1 [HSA:93426] [KO:K19534] (SPGF16) SUN5 [HSA:140732] [KO:K21876] (SPGF17) PLCZ1 [HSA:89869] [KO:K05861] (SPGF18) DNAH1 [HSA:25981] [KO:K10408] (SPGF19) CFAP43 [HSA:80217] [KO:K24223] (SPGF20) CFAP44 [HSA:55779] [KO:K24224] (SPGF21) BRDT [HSA:676] [KO:K11724] (SPGF22) MEIOB [HSA:254528] [KO:K22420] (SPGF23) TEX14 [HSA:56155] [KO:K17540] (SPGF24) CFAP69 [HSA:79846] [KO:K24227] (SPGF25) TEX15 [HSA:56154] [KO:K25680] (SPGF26) TSGA10 [HSA:80705] [KO:K25632] (SPGF27) AK7 [HSA:122481] [KO:K00939] (SPGF28) FANCM [HSA:57697] [KO:K10896] (SPGF29) SPINK2 [HSA:6691] [KO:K23418] (SPGF30) TDRD9 [HSA:122402] [KO:K18408] (SPGF31) PMFBP1 [HSA:83449] [KO:K23223] (SPGF32) SOHLH1 [HSA:402381] [KO:K22495] (SPGF33) CFAP251 [HSA:144406] [KO:K24228] (SPGF34) FSIP2 [HSA:401024] [KO:K26675] (SPGF35) QRICH2 [HSA:84074] [KO:K24298] (SPGF36) PPP2R3C [HSA:55012] [KO:K11583] (SPGF37) TTC21A [HSA:199223] [KO:K24178] (SPGF38) ARMC2 [HSA:84071] [KO:K24123] (SPGF39) DNAH17 [HSA:8632] [KO:K10408] (SPGF40) CFAP65 [HSA:255101] [KO:K24226] (SPGF41) CFAP70 [HSA:118491] [KO:K24932] (SPGF42) TTC29 [HSA:83894] [KO:K24937] (SPGF43) SPEF2 [HSA:79925] [KO:K25615] (SPGF44) CEP112 [HSA:201134] [KO:K16767] (SPGF45) DNAH2 [HSA:146754] [KO:K10408] (SPGF46) DNAH8 [HSA:1769] [KO:K10408] (SPGF47) DZIP1 [HSA:22873] [KO:K16470] (SPGF48) M1AP [HSA:130951] [KO:K26106] (SPGF49) CFAP58 [HSA:159686] [KO:K25554] (SPGF50) XRCC2 [HSA:7516] [KO:K10879] (SPGF51) CFAP91 [HSA:89876] [KO:K25461] (SPGF52) C14orf39 [HSA:317761] [KO:K25705] (SPGF53) ACTL9 [HSA:284382] (SPGF54) CATIP [HSA:375307] [KO:K25788] (SPGF55) SPAG17 [HSA:200162] [KO:K25533] (SPGF56) DNAH10 [HSA:196385] [KO:K10408] (SPGF57) PNLDC1 [HSA:154197] [KO:K01148] (SPGF58) IFT74 [HSA:80173] [KO:K19679] (SPGF59) TERB2 [HSA:145645] [KO:K25750] (SPGF60) TERB1 [HSA:283847] [KO:K25749] (SPGF61) STAG3 [HSA:10734] [KO:K13055] (SPGF62) RNF212 [HSA:285498] [KO:K25662] (SPGF63) RPL10L [HSA:140801] [KO:K02866] (SPGF64) FBXO43 [HSA:286151] [KO:K10318] (SPGF65) DNHD1 [HSA:144132] [KO:K26555] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] (SPGF70) PDHA2 [HSA:5161] [KO:K00161] (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770] (SPGF72) WDR19 [HSA:57728] [KO:K19671] (SPGF73) MOV10L1 [HSA:54456] [KO:K13983] (SPGF74) MSH5 [HSA:4439] [KO:K08741] (SPGF75) SHOC1 [HSA:158401] (SPGF76) CCDC34 [HSA:91057] [KO:K16753] (SPGF77) FKBP6 [HSA:8468] [KO:K09572] (SPGF78) IQCN [HSA:80726] [KO:K26737] (SPGF79) KCNU1 [HSA:157855] [KO:K05274] (SPGF80) DRC1 [HSA:92749] [KO:K19754] (SPGF81) TEKT3 [HSA:64518] [KO:K18630] (SPGF82) AKAP3 [HSA:10566] [KO:K16520] (SPGF83) DNALI1 [HSA:7802] [KO:K10410] (SPGF84) CFAP61 [HSA:26074] [KO:K25460] (SPGF85) SPACA1 [HSA:81833] [KO:K25513] (SPGF86) ACTL7A [HSA:10881] (SPGF87) ACR [HSA:49] [KO:K01317] (SPGF88) KASH5 [HSA:147872] [KO:K22595] (SPGF89) AK9 [HSA:221264] [KO:K18533] (SPGF90) ARMC12 [HSA:221481] [KO:K24168] (SPGFX2) TEX11 [HSA:56159] [KO:K24574] (SPGFX3) CFAP47 [HSA:286464] [KO:K25552] (SPGFX4) GCNA [HSA:93953] [KO:K26957] (SPGFX5) SSX1 [HSA:6756] [KO:K15624] (SPGFX6) USP26 [HSA:83844] [KO:K11850] (SPGFX7) CT55 [HSA:54967] [KO:K25478] |
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